Varaico: Literature-Extracted Genetic Variants

Gene:CFP
Variant:p.D129G
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CFP

NM_001145252.3:p.D129G

Associated Papers

NaV1.2 EFL domain allosterically enhances Ca2+ binding to sites I and II of WT and pathogenic calmodulin mutants bound to the channel CTD.

Mahling R et al.

Structure (london, England : 1993), 2021

Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release.

Søndergaard MT et al.

The Journal of Biological Chemistry, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."